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thrombocytopenia 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombocytopenia 9

MONDO:0957572

Overview

GeneticsAutosomal dominant · THPO (chr 3)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating thrombopoietin concentration and Low platelet count (thrombocytopenia); and sometimes findings: Abnormal bleeding tendency (abnormal bleeding). 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Abnormal bleeding tendency (abnormal bleeding), Abnormal platelet aggregation, Low platelet count (thrombocytopenia)

Genetic Landscape

THPO function has not been fully characterized.

Thrombocytopenia 9 is associated with mutations in the THPO gene on chromosome 3.

Diagnosis

Genetic testing for THPO is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for thrombocytopenia 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for thrombocytopenia 9.

12 publications have been identified in PubMed for thrombocytopenia 9. Research spans Epidemiology / Natural History (40%), Review / Meta-Analysis (20%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Disease patterns and progression	4	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620478

Questions for Your Care Team

→Should I pursue genetic testing for THPO, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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thrombocytopenia 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

thrombocytopenia 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications